Monday, February 19, 2018

Cheddar Man: a Portrait of Britian's First Known Man

In 1903, in Gough’s Cave near the village of Cheddar in Somerset, in southwest England the bones of a 10,000 year old skeleton from the Mesolithic period were found. This skeleton was named Cheddar Man after it's closeness in proximity to the village of Cheddar. Scientists at the Natural History Museum and University College London were able to obtain the DNA of Cheddar Man by drilling a small hole into his skull and collecting the bone powder. By sequencing the DNA from the bone powder the scientists were able to reconstruct  Cheddar Man's face. They discovered that Cheddar Man was dark skinned, dark haired, and had blue eyes.
Cheddar Man's DNA shows that he belonged to a group of Western hunter-gatherers, who first migrated to Europe about 14,000 years ago. 10 percent of British ancestry can be traced back to this particular group. It is currently believed that light skin and dark skin variants arose in Africa 300,000  years ago. Humans first arrived in Europe around 45,000 years ago but the light skinned variant was not brought to Europe until 6,000 years ago. The light skin variant was mostly brought over from people who descended from the near east. The sequencing of Cheddar Man's DNA raises the question of why it took close to 40,000 years for Europeans to make the transition over from darker skin to light? As a person whose heritage is primarily from the British Isles, it makes me wonder why my ancestors skin color changed and could I possibly be related to Cheddar Man?

4,000 Year Old Egyptian Mummies Thought To Be Brothers

Coffins of two mummies who may be brothers are displayed in the Manchester Museum. Some anticipated the thought of the two mummies being brothers for many reasons. Scholars pointed out that the anatomy of the skulls were different and researchers began studying scraps of their skins. From this information, researchers concluded that their complexions revealed that they do not share parents. Genetic studies are being tested to help determine if these conclusions are true. The researchers began to analyze DNA and have also dug deeper into the mummies Y chromosome, which were inherited from their father. The DNA results showed that complete mitochondrial profiles have been recovered, therefore making them being able to say confidently that they are maternally related. According to an article on News Week, "The researchers say that the different treatments of mothers and fathers in the inscriptions suggest that maternal heritage was more important to the ancient Egyptians than paternal heritage was." I found this article interesting because I think that it is cool that there is technology out there to be able to help researchers trace back ancestry. Even including mummies, that is something that always seemed interesting to me throughout history.

Sunday, February 18, 2018

Apert syndrome causing syndactyly or fusing of the fingers in hand. Image credit: Gzzz, (2016, January 14.)

Apert Syndrome

     The characteristics of a person who is suffering from Apert syndrome includes a cone shaped skull, a face that is deep set in the middle, eyes bulging outwards, a beaked nose, and underdeveloped upper jaw. The symptoms include hearing loss, acne, heavy sweating, fusion of spinal bones in the neck, oily skin, missing hair, growth/ development delays, ear infection, cleft palate, and mild to moderate intellectual disabilities.
      Scientists have discovered that this disability is caused by a mutation of the FGFR2 gene. Research has proven that this mutation can occur in children who don't have a family history of this disorder and can also be inherited through family history. The FHFR2 gene produces a protein called fibroblast growth factor receptor 2. This protein holds many responsibilities in reference to signaling bone cell development. When Apert Syndrome occurs, FGFR2 signals longer than it normally does which results in fusion of the skull, facial, feet, and hand bones.
     Apert syndrome is very rare and the exact number of cases is unknown. However researchers know that this disorder can appear with no family history. They also know that if one parent has this disorder the child will have a fifty percent chance to have the disease. The syndrome is equally prevalent between both males and females therefore it does not seem to be sex linked.

Thursday, February 15, 2018

Is There A Such Thing As The Autism Gene?

Scientists discovered twins that both have autism and have concluded that autism is highly heritable. Scientists are now trying to discover if there is a specific gene in our bodies that leads to causing autism. Some environmental factors that lead to autism are those such as exposure to a maternal immune response in the womb or complications during birth. Although their may be several conditions tied to autism, it is known to stem from mutations in a single gene. Therefore, scientists are leading to believe their is no exact autism gene. It is then suggested that Autism is therefore caused by combinations of genes acting together. An article on NY Times states that a lower risk ratio comes from sharing half of ones genes, as for fraternal twins or siblings. Growing up with a cousin who has autism, I have experienced first hand what it is like to help raise and guide them. It is truly an eyeopener, for the shear fact that I get to see her grow and make progress in everything she does. She picks up on things fast, knows every channel to my TV and loves to sing.

Tuesday, February 6, 2018

Skin Replacement Saves Dying Boy

Scientists altered stem cells to grow skin to help those who have skin disease and those who are burn victims. This was tested on a 7-year-old boy who suffers junctional epidermolysis bullosa, which makes skin so fragile that even simple rubbing can cause the skin to blister or come apart. The Boy had complete epidural loss on majority of his body. He was in so much pain that he was on morphine, and fighting off a staph infection. The doctors gave antibiotics, changed dressings, grafted skin donated by his father. The new study exhibits safety of replacing the entire epidermis using and shows how different types of cells work together to help our skin renew itself. In another article on the NY Times, Other researchers have also tried bone-marrow transplants to correct the genetic flaws in the disease, but several children have died from the side effects of that arduous treatment, and results have been mixed in those who survived. I think it is interesting that there are so many studies going on trying to help those who have skin diseases and those who have been involved in fire. Hopefully the research can continue so those who suffering from epidermolysis bullosa are helped.

Monday, February 5, 2018

The First Treatment For Breast Cancer

The Food and Drug Administration finally released the first treatment for patients who have breast cancer caused by BRCA mutations. BRCA mutations are genetic defects that raise the risk of malignancies.The agency said its approval was based on a random clinical trial, that was done with 300 breast cancer patients with BRCA 1 or BRCA 2 mutations. After the trial was over, results showed that the length of time where the tumors did not grow, was a median of 7 months for patients treated with Lynparza compared to 4.2 months for patients receiving chemotherapy. According to the agency, Lynparaza however did not improve the length of survival.
The FDA also approved Myriad Genetics diagnostic test, called BRACAnalysis CDx, as a companion to Lynparza. The Myriad Genetics diagnostic test was previously cleared for ovarian cancer patients, and identifies which breast cancer patients have BRCA mutations. About 5 percent to 10 percent of patients with breast cancer have a BRCA mutation. According to another website called, Rethink The Link, BRCA gene mutations increase the risk of cancer tremendously, and most common type being breast cancer. The BRCA gene also cannot be easily identified based on patient tumor characteristics. After reading more about BRCA 1, BRCA 2 and how it affects those with breast cancer, I'm hoping one day there will finally be a cure for cancer. The amount of friends and families affected has increased greatly. Especially knowing someone so close to you going through such a horrible disease is a hard thing to watch. Many people in my family have passed away from cancer, and I hope doctors can come together to help save the ones we love who are suffering.

Sunday, February 4, 2018

Clean Meats: A multi-million investment

Image result for synthetic meAT

Billionaire icons Bill Gates, and Richard Branson, didn’t get to were they are without making smart, and intuitive investments. So why is it that both of these tycoons are investing in a meat company, called Memphis Meats?  Well it turns out that Memphis Meats is no ordinary meat company, in fact, it is the first organization to produce beef, chicken, and duck meat directly from stem cells. This means that the company produces meat that does not require the breeding or slaughtering of animals, thus coining the name "clean meant".

But this is more than just a publicity stunt, as the company claims to be able to produce the same amount of meat as traditional distributers, but while only using one percent of the land and water. The implications of this could lead to profound effects on our environment, animals, and public health. Which is why billionaire investors are eager to through their money in the “clean meat” pot, 17million to exact. Brason believes that 30 years from now all meat will be clean, and there will be no longer be a need to kill any animals for food, and this all wouldn’t be made possible without the study of genetics.

and for the Memphis Meats website where you can learn more about the "Clean Meat" process use this link

Saturday, February 3, 2018

The Dutch Hunger Winter: Starvation and its Effect on Genes

In September 1944, allied forces failed and all trains coming into the Netherlands came to holt. The Nazis planned to punish the Dutch people by blocking all food supplies going into the Netherlands thus, plunging much of the country into famine. By the time Holland was liberated in May 1945, more than 20,000 people had died of starvation. Pregnant people who survived the famine were uniquely affected in that their children would be influenced by the famine for the rest of their lives. When these children became adults they were heavier than average and as they became middle-aged they had higher levels of triglycerides and LDL cholesterol. Conditions such as diabetes, schizophrenia, and obesity were common and they as reached old age it was found that their mortality increased by 10% once past the age of 68.

Dr. Heijmans, a geneticist and Dr. Lumey, an epidemiologist published a paper with a possible answer. Their study suggests that the Dutch Hunger Winter silenced certain genes in the unborn children and they've stayed quiet since. Certain genes are active in some cells and some are quiet and this is set since birth unless something acts upon them, for example a virus; the study of this gene control is called epigenetics. Researchers have found that silenced genes have a collection of methyl groups near by. The researcher speculate that these methyl groups are affected by prenatal conditions thus, can affect the activity of genes. As terrible as the Dutch Hunger Winter was there is a silver lining. This silver lining has allowed researchers to study a unique health outcome that may help us better understand gene silencing and how a pregnant person's environment can affect their unborn child.,june_1944_-_may_1945/the_hunger_winter